Varaico: Literature-Extracted Genetic Variants

RASA1

1,546 papers

RefSeq Summary

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its...

Pfam Domains

SH2aa 181–256UCSCSH2 domain

SH3_1aa 285–333UCSCSH3 domain

SH2aa 351–426UCSCSH2 domain

PHaa 475–577UCSCPH domain

C2aa 594–692UCSCC2 domain

RasGAPaa 769–841UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 1

HGNC Alias Symbols

CM-AVM; p120GAP; p120RASGAP; p120

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002890.3

p.R537W

c.1609A>T

Surrounding Variants

1 paper

NM_002890.3

p.R537G

c.1609A>G

1 paper

NM_002890.3

p.R537M

c.1610G>T

1 paper

NM_002890.3

p.G536D

c.1607G>A

1 paper

NM_002890.3

p.F535S

c.1604T>C

2 papers

NM_002890.3

p.L534I

c.1600C>A

1 paper

NM_002890.3

p.L534V

c.1600C>G

2 papers

NM_002890.3

p.L534F

c.1600C>T

1 paper

NM_002890.3

p.S533insFs

c.1597dupA

1 paper

NM_002890.3

p.D532_S533delFs

c.1596_1597delTA

2 papers

NM_002890.3

p.D532fs

c.1594_1595fs

1 paper

NM_002890.3

p.H531R

c.1592A>G

3 papers

NM_002890.3

p.V530D

c.1589T>A